Autism spectrum disorder and Klinefelter syndrome

P. Jha, D. Sheth, M. Ghaziuddin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


Background: Autism is a severe handicapping disorder of early childhood characterized by a distinct pattern of social and communication impairment with rigid ritualistic interests. In about 10-25% of cases, it is associated with known medical conditions. Population-based studies of autism have found that Klinefelter's syndrome (KS), a common chromosome abnormality, is sometimes associated with autism. However, few detailed case descriptions of patients with KS and autism have not been published. Case Report: In this paper, we describe the occurrence of autistic features in two cases of Klinefelter syndrome, one with the typical XXY karyotype and the other with the XXYY variant. Conclusion: Autistic features may be more common in persons with Klinefelter syndrome than generally believed. We propose that all patients with KS should be screened for the presence of autism.

Original languageEnglish (US)
Pages (from-to)305-308
Number of pages4
JournalEuropean Child and Adolescent Psychiatry
Issue number5
StatePublished - Aug 1 2007


  • Autism
  • Chromosomes
  • Klinefelter syndrome

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Developmental and Educational Psychology
  • Pediatrics, Perinatology, and Child Health


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